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        {
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                        {
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                        {
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                        },
                        {
                            "id": "rs752950227",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs752950227#frequency_tab"
                        },
                        {
                            "id": "rs752950227",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs752950227"
                        }
                    ]
                }
            ],
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                {
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                        {
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                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1007",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1007"
                        }
                    ],
                    "protein_name": "Amphoterin-induced protein 2",
                    "gene_name": "AMIGO2",
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                    "tax_name": "Homo sapiens",
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            ]
        },
        {
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                {
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                            "url": "https://glygen.org/publication/PubMed/29741879"
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                        {
                            "database": "GlyConnect",
                            "id": "1016",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1016"
                        }
                    ],
                    "protein_name": "Arylsulfatase B",
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            ]
        },
        {
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                            "id": "29741879",
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                        {
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                        }
                    ],
                    "protein_name": "Arylsulfatase B",
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            ]
        },
        {
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                        {
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                        }
                    ],
                    "protein_name": "Arylsulfatase B",
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            ]
        },
        {
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                {
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                        {
                            "database": "PubMed",
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                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1018",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1018"
                        }
                    ],
                    "protein_name": "Aspartyl/asparaginyl beta-hydroxylase",
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                    "tax_name": "Homo sapiens",
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                    "chemical_mass": 85863.0
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            ]
        },
        {
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                {
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                        },
                        {
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                        }
                    ],
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            ]
        },
        {
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                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1018"
                        }
                    ],
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                    "tax_name": "Homo sapiens",
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                    "chemical_mass": 85863.0
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            ]
        },
        {
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                {
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                            "url": "https://glygen.org/publication/PubMed/29741879"
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                        {
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                            "id": "1018",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1018"
                        }
                    ],
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            ]
        },
        {
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                {
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                        {
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                    ],
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                                {
                                    "id": "1319",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:1319"
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                            ]
                        }
                    ]
                },
                {
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                        {
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                        {
                            "id": "rs758171923",
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                    ]
                },
                {
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                        {
                            "id": "rs144001445",
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1018"
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                    ],
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            ]
        },
        {
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                        {
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                    ],
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            ]
        },
        {
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                        {
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                    ],
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            ]
        },
        {
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                    ],
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            ]
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            ]
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            ]
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1036"
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                    ],
                    "protein_name": "Beta-galactosidase",
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            ]
        },
        {
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                    ],
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            ]
        },
        {
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                    "end_pos": 247,
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                        },
                        {
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                        }
                    ],
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                    "tax_common_name": "Human",
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                    "chemical_mass": 76075.0
                }
            ]
        },
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                {
                    "uniprot_canonical_ac": "P16278-1",
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                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1036",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1036"
                        }
                    ],
                    "protein_name": "Beta-galactosidase",
                    "gene_name": "GLB1",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 76075.0
                }
            ]
        },
        {
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            "site_seq": "N",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P16278-1",
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                    "end_pos": 464,
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                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1036",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1036"
                        }
                    ],
                    "protein_name": "Beta-galactosidase",
                    "gene_name": "GLB1",
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            ]
        },
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                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1036",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1036"
                        }
                    ],
                    "protein_name": "Beta-galactosidase",
                    "gene_name": "GLB1",
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                    "tax_common_name": "Human",
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                    "chemical_mass": 76075.0
                }
            ]
        },
        {
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            "site_lbl": "N464",
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                {
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                    "sequence_org": "N",
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                        {
                            "id": "P16278",
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                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P16278"
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                    ],
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                        {
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                                {
                                    "id": "363",
                                    "database": "AGR",
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                            ]
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                    ]
                }
            ],
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                        {
                            "database": "GlyConnect",
                            "id": "1036",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1036"
                        }
                    ],
                    "protein_name": "Beta-galactosidase",
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            ]
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                            "database": "PubMed",
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                        {
                            "database": "GlyConnect",
                            "id": "1038",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1038"
                        }
                    ],
                    "protein_name": "Beta-hexosaminidase subunit alpha",
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                    "chemical_mass": 60703.0
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            ]
        },
        {
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                    "uniprot_canonical_ac": "P06865-1",
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                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1038",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1038"
                        }
                    ],
                    "protein_name": "Beta-hexosaminidase subunit alpha",
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                    "tax_name": "Homo sapiens",
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                    "chemical_mass": 60703.0
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            ]
        },
        {
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                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1038",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1038"
                        }
                    ],
                    "protein_name": "Beta-hexosaminidase subunit alpha",
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                    "tax_name": "Homo sapiens",
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                    "chemical_mass": 60703.0
                }
            ]
        },
        {
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            "site_lbl": "",
            "residue": "",
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                {
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                    "comment": "No change of the catalytic activity associated with the alpha-chain. No catalytic activity associated with the alpha-chain; when associated with Q-115 and Q-295.",
                    "evidence": [
                        {
                            "database": "UniProtKB",
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                            "url": "https://www.uniprot.org/uniprotkb/P06865"
                        },
                        {
                            "database": "PubMed",
                            "id": "1533633",
                            "url": "https://glygen.org/publication/PubMed/1533633"
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                    ]
                }
            ],
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                        },
                        {
                            "database": "GlyConnect",
                            "id": "1038",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1038"
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                    ],
                    "protein_name": "Beta-hexosaminidase subunit alpha",
                    "gene_name": "HEXA",
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                    "tax_name": "Homo sapiens",
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            ]
        },
        {
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                {
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                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1039",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1039"
                        }
                    ],
                    "protein_name": "Beta-hexosaminidase subunit beta",
                    "gene_name": "HEXB",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 63137.0
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            ]
        },
        {
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                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1039",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1039"
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                    ],
                    "protein_name": "Beta-hexosaminidase subunit beta",
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            ]
        },
        {
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                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1039",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1039"
                        }
                    ],
                    "protein_name": "Beta-hexosaminidase subunit beta",
                    "gene_name": "HEXB",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 63137.0
                }
            ]
        },
        {
            "start_pos": "84",
            "site_seq": "N",
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                {
                    "uniprot_canonical_ac": "P07686-1",
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                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1039",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1039"
                        }
                    ],
                    "protein_name": "Beta-hexosaminidase subunit beta",
                    "gene_name": "HEXB",
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                    "chemical_mass": 63137.0
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            ]
        },
        {
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                {
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                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
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                            "id": "1039",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1039"
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                    ],
                    "protein_name": "Beta-hexosaminidase subunit beta",
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                    "chemical_mass": 63137.0
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            ]
        },
        {
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                    "evidence": [
                        {
                            "id": "P07686",
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                    ],
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                                {
                                    "id": "363",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:363"
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                            ]
                        }
                    ]
                },
                {
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                    "sequence_org": "N",
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                            "id": "rs772132346",
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                        {
                            "id": "rs772132346",
                            "database": "ExAC",
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                        {
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                        },
                        {
                            "id": "rs772132346",
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                    ]
                }
            ],
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                    ],
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            ]
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        {
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                    ],
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                                {
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                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/268800"
                                },
                                {
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                                    "url": "https://glycosmos.org/glycogenes/show/3074#disease"
                                },
                                {
                                    "id": "3323",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:3323"
                                }
                            ]
                        },
                        {
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                                    "id": "0010006",
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                                },
                                {
                                    "id": "268800",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/268800"
                                },
                                {
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                                    "url": "https://glycosmos.org/glycogenes/show/3074#disease"
                                },
                                {
                                    "id": "3323",
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                            ]
                        }
                    ]
                },
                {
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                    "sequence_org": "N",
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                    "comment": "Germline mutation passed 0 out of 0 filters:",
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                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200209801"
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                        {
                            "id": "rs200209801",
                            "database": "1000Genomes",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200209801"
                        },
                        {
                            "id": "rs200209801",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200209801"
                        },
                        {
                            "id": "rs200209801",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs200209801#frequency_tab"
                        },
                        {
                            "id": "rs200209801",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs200209801"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Germline mutation passed 0 out of 0 filters:",
                    "chr_id": "5",
                    "chr_pos": "74685512",
                    "evidence": [
                        {
                            "id": "rs1748844455",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1748844455"
                        },
                        {
                            "id": "rs1748844455",
                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs1748844455"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 0 out of 0 filters:",
                    "chr_id": "5",
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                    "evidence": [
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                        {
                            "id": "rs200209801",
                            "database": "1000Genomes",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200209801"
                        },
                        {
                            "id": "rs200209801",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200209801"
                        },
                        {
                            "id": "rs200209801",
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                        },
                        {
                            "id": "rs200209801",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs200209801"
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                    ],
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                        {
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                                {
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                                {
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                                },
                                {
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                                },
                                {
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                        {
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                                {
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                                {
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                                {
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                                },
                                {
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                            ]
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                        {
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                                {
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                                    "url": "https://www.omim.org/entry/268800"
                                },
                                {
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                                    "url": "https://glycosmos.org/glycogenes/show/3074#disease"
                                },
                                {
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                            ]
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                        {
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                                {
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                    ],
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            ]
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                    ],
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                    "gene_name": "CILP",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 132565.0
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            ]
        },
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                        {
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                    ],
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            ]
        },
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                {
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                    "chr_pos": "65198637",
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                        {
                            "id": "rs2088410919",
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                        },
                        {
                            "id": "rs2088410919",
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                        },
                        {
                            "id": "rs2088410919",
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                }
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                    ],
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            ]
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                        {
                            "id": "rs2140671894",
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                    ]
                },
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                    ],
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                        {
                            "disease_id": "DOID:11934",
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                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "evidence": [
                                {
                                    "id": "11934",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:11934"
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                            ]
                        }
                    ]
                }
            ],
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                {
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                    ],
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            ]
        },
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                    ],
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            ]
        },
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                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1079"
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                    ],
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            ]
        },
        {
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                {
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                        },
                        {
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                    ],
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            ]
        },
        {
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                {
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                        {
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                    ],
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            ]
        },
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                    ],
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            ]
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                        {
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                    ],
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            ]
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                    ],
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            ]
        },
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                        {
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                    ]
                },
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                        {
                            "id": "rs1248669413",
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            ]
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        {
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                    ],
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            ]
        },
        {
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                    "gene_name": "CERS2",
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                    "tax_common_name": "Human",
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            ]
        },
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            ]
        },
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                    ],
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            ]
        },
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                    ],
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                        {
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            ]
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                        },
                        {
                            "database": "GlyConnect",
                            "id": "1128",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1128"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(V) chain",
                    "gene_name": "COL5A1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 1838,
                    "chemical_mass": 183560.0
                }
            ]
        },
        {
            "start_pos": "1672",
            "site_seq": "N",
            "site_lbl": "Asn1672",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P20908-1",
                    "start_pos": 1672,
                    "end_pos": 1672,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1128",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1128"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(V) chain",
                    "gene_name": "COL5A1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 1838,
                    "chemical_mass": 183560.0
                }
            ]
        },
        {
            "start_pos": "1672",
            "site_seq": "VYCNFTAGGSTCVFPDKK",
            "site_lbl": "Asn1672",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P20908-1",
                    "start_pos": 1672,
                    "end_pos": 1672,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1128",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1128"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(V) chain",
                    "gene_name": "COL5A1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 1838,
                    "chemical_mass": 183560.0
                }
            ]
        },
        {
            "start_pos": "1672",
            "site_seq": "",
            "site_lbl": "N1672",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NFT->KFT).",
                    "chr_id": "9",
                    "chr_pos": "134825853",
                    "evidence": [
                        {
                            "id": "P20908",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20908"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:5041",
                            "name": "esophageal cancer",
                            "description": "A gastrointestinal system cancer that is located_in the esophagus.",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "evidence": [
                                {
                                    "id": "5041",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:5041"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10534",
                            "name": "stomach cancer",
                            "description": "A gastrointestinal system cancer that is located_in the stomach.",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "evidence": [
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                },
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                }
                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->SFT).",
                    "chr_id": "9",
                    "chr_pos": "134825852",
                    "evidence": [
                        {
                            "id": "rs1839243054",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1839243054"
                        },
                        {
                            "id": "rs1839243054",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs1839243054#frequency_tab"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:13359",
                            "name": "Ehlers-Danlos syndrome",
                            "description": "A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.",
                            "url": "http://disease-ontology.org/term/DOID:13359",
                            "evidence": [
                                {
                                    "id": "13359",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:13359"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:13359",
                            "name": "Ehlers-Danlos syndrome",
                            "description": "A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.",
                            "url": "http://disease-ontology.org/term/DOID:13359",
                            "evidence": [
                                {
                                    "id": "13359",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:13359"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:14720",
                            "name": "Ehlers-Danlos syndrome classic type 1",
                            "description": "An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34.",
                            "url": "http://disease-ontology.org/term/DOID:14720",
                            "evidence": [
                                {
                                    "id": "14720",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:14720"
                                },
                                {
                                    "id": "14720",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:14720"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:14720",
                            "name": "Ehlers-Danlos syndrome classic type 1",
                            "description": "An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34.",
                            "url": "http://disease-ontology.org/term/DOID:14720",
                            "evidence": [
                                {
                                    "id": "14720",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:14720"
                                },
                                {
                                    "id": "14720",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:14720"
                                }
                            ]
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P20908-1",
                    "start_pos": 1672,
                    "end_pos": 1672,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1128",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1128"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(V) chain",
                    "gene_name": "COL5A1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 1838,
                    "chemical_mass": 183560.0
                }
            ]
        },
        {
            "start_pos": "804",
            "site_seq": "nVTAQICIDK",
            "site_lbl": "Asn804",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12109-1",
                    "start_pos": 804,
                    "end_pos": 804,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1129",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1129"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(VI) chain",
                    "gene_name": "COL6A1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 1028,
                    "chemical_mass": 108529.0
                }
            ]
        },
        {
            "start_pos": "804",
            "site_seq": "N",
            "site_lbl": "Asn804",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12109-1",
                    "start_pos": 804,
                    "end_pos": 804,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1129",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1129"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(VI) chain",
                    "gene_name": "COL6A1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 1028,
                    "chemical_mass": 108529.0
                }
            ]
        },
        {
            "start_pos": "804",
            "site_seq": "NVTAQICIDKK",
            "site_lbl": "Asn804",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12109-1",
                    "start_pos": 804,
                    "end_pos": 804,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1129",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1129"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(VI) chain",
                    "gene_name": "COL6A1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 1028,
                    "chemical_mass": 108529.0
                }
            ]
        },
        {
            "start_pos": "804",
            "site_seq": "",
            "site_lbl": "N804",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->SVT).",
                    "chr_id": "21",
                    "chr_pos": "46002687",
                    "evidence": [
                        {
                            "id": "rs750677189",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750677189"
                        },
                        {
                            "id": "rs750677189",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750677189"
                        },
                        {
                            "id": "rs750677189",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs750677189#frequency_tab"
                        },
                        {
                            "id": "rs750677189",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs750677189"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:0050663",
                            "name": "Bethlem myopathy",
                            "description": "A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene.",
                            "url": "http://disease-ontology.org/term/DOID:0050663",
                            "evidence": [
                                {
                                    "id": "158810",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/158810"
                                },
                                {
                                    "id": "0050663",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050663"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050663",
                            "name": "Bethlem myopathy",
                            "description": "A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene.",
                            "url": "http://disease-ontology.org/term/DOID:0050663",
                            "evidence": [
                                {
                                    "id": "158810",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/158810"
                                },
                                {
                                    "id": "0050663",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050663"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050663",
                            "name": "Bethlem myopathy",
                            "description": "A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene.",
                            "url": "http://disease-ontology.org/term/DOID:0050663",
                            "evidence": [
                                {
                                    "id": "158810",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/158810"
                                },
                                {
                                    "id": "0050663",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050663"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050663",
                            "name": "Bethlem myopathy",
                            "description": "A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene.",
                            "url": "http://disease-ontology.org/term/DOID:0050663",
                            "evidence": [
                                {
                                    "id": "158810",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/158810"
                                },
                                {
                                    "id": "0050663",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050663"
                                }
                            ]
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12109-1",
                    "start_pos": 804,
                    "end_pos": 804,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1129",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1129"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(VI) chain",
                    "gene_name": "COL6A1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 1028,
                    "chemical_mass": 108529.0
                }
            ]
        },
        {
            "start_pos": "1763",
            "site_seq": "N",
            "site_lbl": "Asn1763",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q99715-1",
                    "start_pos": 1763,
                    "end_pos": 1763,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1131",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1131"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(XII) chain",
                    "gene_name": "COL12A1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3063,
                    "chemical_mass": 333147.0
                }
            ]
        },
        {
            "start_pos": "1763",
            "site_seq": "NLQVYnATSNSLTVK",
            "site_lbl": "Asn1763",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q99715-1",
                    "start_pos": 1763,
                    "end_pos": 1763,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1131",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1131"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(XII) chain",
                    "gene_name": "COL12A1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3063,
                    "chemical_mass": 333147.0
                }
            ]
        },
        {
            "start_pos": "1763",
            "site_seq": "NLQVYNATSNSLTVK",
            "site_lbl": "Asn1763",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q99715-1",
                    "start_pos": 1763,
                    "end_pos": 1763,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1131",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1131"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(XII) chain",
                    "gene_name": "COL12A1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3063,
                    "chemical_mass": 333147.0
                }
            ]
        },
        {
            "start_pos": "2206",
            "site_seq": "N",
            "site_lbl": "Asn2206",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q99715-1",
                    "start_pos": 2206,
                    "end_pos": 2206,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1131",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1131"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(XII) chain",
                    "gene_name": "COL12A1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3063,
                    "chemical_mass": 333147.0
                }
            ]
        },
        {
            "start_pos": "2528",
            "site_seq": "MLEAYnLTEK",
            "site_lbl": "Asn2528",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q99715-1",
                    "start_pos": 2528,
                    "end_pos": 2528,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1131",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1131"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(XII) chain",
                    "gene_name": "COL12A1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3063,
                    "chemical_mass": 333147.0
                }
            ]
        },
        {
            "start_pos": "2528",
            "site_seq": "N",
            "site_lbl": "Asn2528",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q99715-1",
                    "start_pos": 2528,
                    "end_pos": 2528,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1131",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1131"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(XII) chain",
                    "gene_name": "COL12A1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3063,
                    "chemical_mass": 333147.0
                }
            ]
        },
        {
            "start_pos": "2528",
            "site_seq": "IEDNLITFVCETATSSCPLIYLDGYTSPGFKMLEAYNLTEK",
            "site_lbl": "Asn2528",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q99715-1",
                    "start_pos": 2528,
                    "end_pos": 2528,
                    "residue": "Asn",
                    "evidence": [
                        {
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                    ],
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            ]
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                    ],
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            ]
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                                {
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                    ],
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            ]
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                    ],
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            ]
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                    ],
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            ]
        },
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                        {
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                    ],
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                    ],
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            ]
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            ],
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            ]
        },
        {
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                        },
                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1178"
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                    ],
                    "protein_name": "Disintegrin and metalloproteinase domain-containing protein 10",
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                    "length": 748,
                    "chemical_mass": 84142.0
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            ]
        },
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                        {
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                    ],
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            ]
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            ]
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                    ],
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                    "chemical_mass": 90556.0
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            ]
        },
        {
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                        {
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                    ],
                    "protein_name": "Disintegrin and metalloproteinase domain-containing protein 9",
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            ]
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            ]
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                        {
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                            "description": "A hepatobiliary system cancer that is located_in the liver.",
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                                    "id": "3571",
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                    ],
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            ]
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            ]
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                        {
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                    ]
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                    ],
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            ]
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                    ],
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            ]
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                        {
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                    ]
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                        {
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                    ]
                },
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            ]
        },
        {
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                    ],
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            ]
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        },
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                        {
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                    ],
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                        {
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                    ],
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            ]
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                        {
                            "id": "rs1321881720",
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                    ]
                },
                {
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                        {
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                    ]
                },
                {
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                        {
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                        {
                            "id": "rs373819791",
                            "database": "TOPMed",
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                        {
                            "id": "rs373819791",
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                    ]
                },
                {
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                        {
                            "id": "rs533825372",
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                        },
                        {
                            "id": "rs533825372",
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                        {
                            "id": "rs533825372",
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                        },
                        {
                            "id": "rs533825372",
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                        {
                            "id": "rs533825372",
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                    ]
                },
                {
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                        {
                            "id": "rs373819791",
                            "database": "dbSNP",
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                        },
                        {
                            "id": "rs373819791",
                            "database": "ExAC",
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                        {
                            "id": "rs373819791",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs373819791#frequency_tab"
                        },
                        {
                            "id": "rs373819791",
                            "database": "gnomAD",
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                    ]
                },
                {
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                        {
                            "id": "rs373819791",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373819791"
                        },
                        {
                            "id": "rs373819791",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373819791"
                        },
                        {
                            "id": "rs373819791",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs373819791#frequency_tab"
                        },
                        {
                            "id": "rs373819791",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs373819791"
                        }
                    ]
                },
                {
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->YGT).",
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                        {
                            "id": "rs1321881720",
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                        {
                            "id": "rs1321881720",
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                        {
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                {
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                        {
                            "database": "UniProtKB",
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                        {
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            ],
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                        {
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                    ],
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            ]
        },
        {
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                {
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                        {
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                    ],
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            ]
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                        {
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                        {
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                        {
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                        {
                            "id": "rs138221490",
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                        {
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                    ],
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            ]
        },
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                        {
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                    ],
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            ]
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                    ]
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                {
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                    ],
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                                {
                                    "id": "4159",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:4159"
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                            ]
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                    ]
                },
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1221"
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                    ],
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            ]
        },
        {
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                            "database": "PubMed",
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                        {
                            "database": "GlyConnect",
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                    ],
                    "protein_name": "Erlin-2",
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            ]
        },
        {
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                {
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            ]
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                    ],
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            ]
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                            "id": "rs2130284306",
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                        {
                            "id": "rs2130284306",
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                    ]
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                    ],
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                    ]
                },
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                        {
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                            ]
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                        {
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                                {
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                            ]
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                    ]
                },
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            ]
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                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1237"
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            ]
        },
        {
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                            "database": "PubMed",
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1237"
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            ]
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                    ]
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                        {
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                        {
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                        {
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                    ],
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                    ],
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            ]
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                    ],
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            ]
        },
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            ]
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            ]
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            ]
        },
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                {
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                        {
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                        {
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                        {
                            "id": "rs1359636251",
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                        }
                    ]
                },
                {
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                        },
                        {
                            "id": "rs1034376375",
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                    ]
                }
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                        {
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                    ],
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            ]
        },
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1294"
                        }
                    ],
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            ]
        },
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                        },
                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1294"
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                    ],
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            ]
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        {
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                    ],
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            ]
        },
        {
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                        {
                            "id": "rs1445815217",
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                    ]
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                    ],
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            ]
        },
        {
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                    ],
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            ]
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            ]
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                    ],
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            ]
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            ]
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                    ],
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            ]
        },
        {
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                        {
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                    ],
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            ]
        },
        {
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                    ],
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            ]
        },
        {
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                        {
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                    ]
                },
                {
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                        {
                            "id": "rs2128938270",
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                    ]
                },
                {
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                    "sequence_org": "N",
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                        {
                            "id": "rs2128938267",
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                    ]
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                        {
                            "id": "rs2128938322",
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                    ]
                },
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                        {
                            "id": "rs2128938327",
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                    ]
                },
                {
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                        {
                            "id": "rs2128938329",
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                        {
                            "id": "rs2128938329",
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                    ]
                },
                {
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                    ]
                },
                {
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                        {
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                        {
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                    ]
                },
                {
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                        {
                            "id": "rs2128938322",
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1382"
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                    ],
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            ]
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            ]
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                        {
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                        {
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                        {
                            "id": "rs762628428",
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                    ]
                },
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                    ],
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                                {
                                    "id": "363",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:363"
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                        {
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                },
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                        {
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                        {
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                        {
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                },
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            ]
        },
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                        {
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            ]
        },
        {
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            ]
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                        {
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                        {
                            "id": "rs1327646822",
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                    ]
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q08722-1",
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                    "end_pos": 73,
                    "residue": "Asn",
                    "evidence": [
                        {
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                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1456",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1456"
                        }
                    ],
                    "protein_name": "Leukocyte surface antigen CD47",
                    "gene_name": "CD47",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 323,
                    "chemical_mass": 35214.0
                }
            ]
        },
        {
            "start_pos": "73",
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                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "T",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->TKS).",
                    "chr_id": "3",
                    "chr_pos": "108080173",
                    "evidence": [
                        {
                            "id": "rs2108266168",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2108266168"
                        },
                        {
                            "id": "rs2108266168",
                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs2108266168"
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q08722-1",
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                        {
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                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1456",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1456"
                        }
                    ],
                    "protein_name": "Leukocyte surface antigen CD47",
                    "gene_name": "CD47",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 35214.0
                }
            ]
        },
        {
            "start_pos": "240",
            "site_seq": "N",
            "site_lbl": "Asn240",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q5W064-1",
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                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1458",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1458"
                        }
                    ],
                    "protein_name": "Lipase member J",
                    "gene_name": "LIPJ",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 366,
                    "chemical_mass": 42388.0
                }
            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "Q5VXJ0-1",
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                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1459",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1459"
                        }
                    ],
                    "protein_name": "Lipase member K",
                    "gene_name": "LIPK",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 399,
                    "chemical_mass": 45563.0
                }
            ]
        },
        {
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            "site_seq": "N",
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                {
                    "uniprot_canonical_ac": "Q9NZR2-1",
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                    "end_pos": 1983,
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                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1466",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1466"
                        }
                    ],
                    "protein_name": "Low-density lipoprotein receptor-related protein 1B",
                    "gene_name": "LRP1B",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 4599,
                    "chemical_mass": 515498.0
                }
            ]
        },
        {
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                {
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                    "sequence_org": "N",
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                    "chr_pos": "140716048",
                    "evidence": [
                        {
                            "id": "rs750818136",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750818136"
                        },
                        {
                            "id": "rs750818136",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750818136"
                        },
                        {
                            "id": "rs750818136",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs750818136#frequency_tab"
                        },
                        {
                            "id": "rs750818136",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs750818136"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->KGS).",
                    "chr_id": "2",
                    "chr_pos": "140716047",
                    "evidence": [
                        {
                            "id": "rs1687198473",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1687198473"
                        },
                        {
                            "id": "rs1687198473",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1687198473"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NGS->SGS).",
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                    "chr_pos": "140716048",
                    "evidence": [
                        {
                            "id": "Q9NZR2",
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                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NZR2"
                        },
                        {
                            "id": "rs750818136",
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                        },
                        {
                            "id": "rs750818136",
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                        },
                        {
                            "id": "rs750818136",
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                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs750818136#frequency_tab"
                        },
                        {
                            "id": "rs750818136",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs750818136"
                        }
                    ],
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                        {
                            "disease_id": "DOID:2531",
                            "name": "hematologic cancer",
                            "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.",
                            "url": "http://disease-ontology.org/term/DOID:2531",
                            "evidence": [
                                {
                                    "id": "2531",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:2531"
                                }
                            ]
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
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                        {
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                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
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                            "id": "1466",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1466"
                        }
                    ],
                    "protein_name": "Low-density lipoprotein receptor-related protein 1B",
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                    "chemical_mass": 515498.0
                }
            ]
        },
        {
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                {
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                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1470",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1470"
                        }
                    ],
                    "protein_name": "Lumican",
                    "gene_name": "LUM",
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                    "tax_common_name": "Human",
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                    "chemical_mass": 38429.0
                }
            ]
        },
        {
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            "site_seq": "N",
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                {
                    "uniprot_canonical_ac": "P51884-1",
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                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1470",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1470"
                        }
                    ],
                    "protein_name": "Lumican",
                    "gene_name": "LUM",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 38429.0
                }
            ]
        },
        {
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                {
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                        },
                        {
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                            "id": "1470",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1470"
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                    ],
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            ]
        },
        {
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                            "id": "1470",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1470"
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                    ],
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                }
            ]
        },
        {
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                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1470"
                        }
                    ],
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                    "chemical_mass": 38429.0
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            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "P38571-1",
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                        },
                        {
                            "database": "GlyConnect",
                            "id": "1475",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1475"
                        }
                    ],
                    "protein_name": "Lysosomal acid lipase/cholesteryl ester hydrolase",
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            ]
        },
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                        {
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                    ],
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            ]
        },
        {
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                    ]
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            ],
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                    ],
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            ]
        },
        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1476"
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                    ],
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            ]
        },
        {
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                    ],
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            ]
        },
        {
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                    ],
                    "protein_name": "Lysosomal acid phosphatase",
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                }
            ]
        },
        {
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            "site_seq": "nLTLMATTSQLPK",
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                {
                    "uniprot_canonical_ac": "P11117-1",
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                    ],
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                    "chemical_mass": 48344.0
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            ]
        },
        {
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                {
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                            "id": "1476",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1476"
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                    ],
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                        {
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            ]
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            ]
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            ]
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                                {
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                                {
                                    "id": "253000",
                                    "database": "MIM",
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                                },
                                {
                                    "id": "2588",
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                                    "url": "https://glycosmos.org/glycogenes/show/2588#disease"
                                },
                                {
                                    "id": "0111391",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111391"
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                            ]
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                                {
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                                },
                                {
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                                },
                                {
                                    "id": "0111391",
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                            ]
                        },
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                                {
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                                },
                                {
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                                },
                                {
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                                {
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                                },
                                {
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                                },
                                {
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                    ]
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                        {
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                        {
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                        {
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                                {
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                                {
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                                {
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                                {
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                                {
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                                {
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                            ]
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                                {
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                                {
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                                {
                                    "id": "0111391",
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                                {
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                        {
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                {
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                        {
                            "database": "GlyConnect",
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                    ],
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                        {
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            ]
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            ]
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                        {
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                    ]
                },
                {
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                        {
                            "id": "rs1945262306",
                            "database": "ENSEMBL",
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                    ]
                }
            ],
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                    ],
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            ]
        },
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                            "id": "rs1162827704",
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                        {
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                        {
                            "id": "rs1162827704",
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                    ]
                },
                {
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                        {
                            "id": "rs376848008",
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                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376848008"
                        },
                        {
                            "id": "rs376848008",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs376848008#frequency_tab"
                        },
                        {
                            "id": "rs376848008",
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                    ]
                }
            ],
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                        {
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                    ],
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            ]
        },
        {
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                {
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                        {
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                            "id": "1604",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1604"
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                    ],
                    "protein_name": "5'-3' exonuclease PLD3",
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            ]
        },
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                        {
                            "id": "rs200274020",
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                        },
                        {
                            "id": "rs200274020",
                            "database": "ExAC",
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                        {
                            "id": "rs200274020",
                            "database": "TOPMed",
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                        },
                        {
                            "id": "rs200274020",
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                    ]
                }
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                    ],
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            ]
        },
        {
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                        {
                            "database": "GlyConnect",
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1607"
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                    ],
                    "protein_name": "Pituitary tumor-transforming gene 1 protein-interacting protein",
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                        {
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            ]
        },
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            ]
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                        {
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                    ],
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            ]
        },
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                            "database": "UniProtKB",
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                        {
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                    ]
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            ],
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                        },
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                    ],
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            ]
        },
        {
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                        {
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                    ],
                    "protein_name": "Procollagen galactosyltransferase 1",
                    "gene_name": "COLGALT1",
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                    "tax_common_name": "Human",
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                    "chemical_mass": 71636.0
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            ]
        },
        {
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                        {
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                            "id": "1631",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1631"
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                    ],
                    "protein_name": "Procollagen galactosyltransferase 1",
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            ]
        },
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                        {
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                        },
                        {
                            "database": "GlyConnect",
                            "id": "1631",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1631"
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                    ],
                    "protein_name": "Procollagen galactosyltransferase 1",
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                    "tax_common_name": "Human",
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                    "chemical_mass": 71636.0
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            ]
        },
        {
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                        {
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                    ],
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            ]
        },
        {
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                        },
                        {
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                    ],
                    "protein_name": "Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1",
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            ]
        },
        {
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                        },
                        {
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                    ],
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            ]
        },
        {
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                        {
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                    ],
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            ]
        },
        {
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                        },
                        {
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                    ],
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            ]
        },
        {
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                        {
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                    ],
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            ]
        },
        {
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                        {
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                    ]
                },
                {
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                        {
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                        {
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                        },
                        {
                            "id": "rs750416079",
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                    ],
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                                {
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            ]
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                    ],
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            ]
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            ]
        },
        {
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                    ],
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                    ],
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                                {
                                    "id": "1324",
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            ]
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                        {
                            "database": "GlyConnect",
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                        {
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                        {
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                    ],
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            ]
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                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111203",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 5",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14.",
                            "url": "http://disease-ontology.org/term/DOID:0111203",
                            "evidence": [
                                {
                                    "id": "600794",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/600794"
                                },
                                {
                                    "id": "0111203",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111203"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111203",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 5",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14.",
                            "url": "http://disease-ontology.org/term/DOID:0111203",
                            "evidence": [
                                {
                                    "id": "600794",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/600794"
                                },
                                {
                                    "id": "0111203",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111203"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111203",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 5",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14.",
                            "url": "http://disease-ontology.org/term/DOID:0111203",
                            "evidence": [
                                {
                                    "id": "600794",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/600794"
                                },
                                {
                                    "id": "0111203",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111203"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111203",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 5",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14.",
                            "url": "http://disease-ontology.org/term/DOID:0111203",
                            "evidence": [
                                {
                                    "id": "600794",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/600794"
                                },
                                {
                                    "id": "0111203",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111203"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111203",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 5",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14.",
                            "url": "http://disease-ontology.org/term/DOID:0111203",
                            "evidence": [
                                {
                                    "id": "600794",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/600794"
                                },
                                {
                                    "id": "0111203",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111203"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111203",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 5",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14.",
                            "url": "http://disease-ontology.org/term/DOID:0111203",
                            "evidence": [
                                {
                                    "id": "600794",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/600794"
                                },
                                {
                                    "id": "0111203",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111203"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111203",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 5",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14.",
                            "url": "http://disease-ontology.org/term/DOID:0111203",
                            "evidence": [
                                {
                                    "id": "600794",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/600794"
                                },
                                {
                                    "id": "0111203",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111203"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111203",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 5",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14.",
                            "url": "http://disease-ontology.org/term/DOID:0111203",
                            "evidence": [
                                {
                                    "id": "600794",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/600794"
                                },
                                {
                                    "id": "0111203",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111203"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111203",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 5",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14.",
                            "url": "http://disease-ontology.org/term/DOID:0111203",
                            "evidence": [
                                {
                                    "id": "600794",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/600794"
                                },
                                {
                                    "id": "0111203",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111203"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111203",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 5",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14.",
                            "url": "http://disease-ontology.org/term/DOID:0111203",
                            "evidence": [
                                {
                                    "id": "600794",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/600794"
                                },
                                {
                                    "id": "0111203",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111203"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111203",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 5",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14.",
                            "url": "http://disease-ontology.org/term/DOID:0111203",
                            "evidence": [
                                {
                                    "id": "600794",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/600794"
                                },
                                {
                                    "id": "0111203",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111203"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
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                                {
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                            ]
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                        {
                            "disease_id": "DOID:0110770",
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                                {
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                                {
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                        {
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                                {
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                        {
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                                {
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                        {
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                        {
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                    ],
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                    ],
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                        {
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                    ],
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            ]
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                    ],
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            ]
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                        {
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                    ]
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            ],
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                    ],
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            ]
        },
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                    ],
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                    ],
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            ]
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                    ],
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            ]
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                    ],
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        },
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                    ],
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                    ]
                },
                {
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                        {
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            ]
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                    ],
                    "protein_name": "Sortilin-related receptor",
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            ]
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            ]
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1772"
                        }
                    ],
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            ]
        },
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                    ],
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                    ],
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                                {
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                            ]
                        },
                        {
                            "disease_id": "DOID:10534",
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                                {
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                                {
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                    ],
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                    ],
                    "protein_name": "SUN domain-containing protein 2",
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                    ],
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                    ],
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                },
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                        {
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                        {
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            ]
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                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1779"
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                    ],
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                    ],
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                        {
                            "id": "rs151143463",
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            ]
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                        {
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            ]
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            ]
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                        {
                            "id": "rs1885922817",
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                        }
                    ]
                }
            ],
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                    ],
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            ]
        },
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                        },
                        {
                            "id": "rs145819878",
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                        },
                        {
                            "id": "rs145819878",
                            "database": "TOPMed",
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                        },
                        {
                            "id": "rs145819878",
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                        },
                        {
                            "id": "rs145819878",
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                        }
                    ],
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                        }
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                }
            ],
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                    ],
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            ]
        },
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                        },
                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1908"
                        }
                    ],
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            ]
        },
        {
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                        },
                        {
                            "database": "GlyConnect",
                            "id": "1908",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1908"
                        }
                    ],
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            ]
        },
        {
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                        },
                        {
                            "database": "GlyConnect",
                            "id": "1908",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1908"
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                    ],
                    "protein_name": "Zinc transporter ZIP6",
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                    "chemical_mass": 85047.0
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            ]
        },
        {
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                    "chr_pos": "36124693",
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                        {
                            "id": "rs747594397",
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                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747594397"
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                        {
                            "id": "rs747594397",
                            "database": "ExAC",
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                        },
                        {
                            "id": "rs747594397",
                            "database": "TOPMed",
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                        {
                            "id": "rs747594397",
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                    ]
                }
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                        },
                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1908"
                        }
                    ],
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            ]
        },
        {
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                        {
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                        },
                        {
                            "database": "GlyConnect",
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1986"
                        }
                    ],
                    "protein_name": "HLA class II histocompatibility antigen, DQ alpha 1 chain",
                    "gene_name": "HLA-DQA1",
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                    "tax_name": "Homo sapiens",
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                    "chemical_mass": 27805.0
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            ]
        },
        {
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                {
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                            "database": "PubMed",
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                        {
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                    ],
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            ]
        },
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                        },
                        {
                            "database": "GlyConnect",
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                            "url": "https://glyconnect.expasy.org/browser/proteins/277"
                        }
                    ],
                    "protein_name": "Immunoglobulin J chain",
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                    "chemical_mass": 18099.0
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            ]
        },
        {
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                        {
                            "database": "PubMed",
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                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
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                        }
                    ],
                    "protein_name": "Immunoglobulin J chain",
                    "gene_name": "JCHAIN",
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            ]
        },
        {
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                        },
                        {
                            "database": "GlyConnect",
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                        }
                    ],
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            ]
        },
        {
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                        {
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                    ],
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            ]
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                },
                {
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                        {
                            "id": "rs924730867",
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                        {
                            "id": "rs924730867",
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                        {
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                    ],
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            ]
        },
        {
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                        {
                            "database": "GlyConnect",
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                            "url": "https://glyconnect.expasy.org/browser/proteins/280"
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                    ],
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            ]
        },
        {
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                            "database": "PubMed",
                            "id": "25802287",
                            "url": "https://glygen.org/publication/PubMed/25802287"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "280",
                            "url": "https://glyconnect.expasy.org/browser/proteins/280"
                        },
                        {
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                            "id": "26510530",
                            "url": "https://glygen.org/publication/PubMed/26510530"
                        },
                        {
                            "database": "PubMed",
                            "id": "24706782",
                            "url": "https://glygen.org/publication/PubMed/24706782"
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                    ],
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            ]
        },
        {
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                        {
                            "id": "P01871",
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                    ],
                    "disease": [
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                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                },
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
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                            ]
                        }
                    ]
                },
                {
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                    ],
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                                {
                                    "id": "363",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:363"
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                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->YAS).",
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                            "id": "rs1258657913",
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                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1258657913"
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                        {
                            "id": "rs1258657913",
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                        },
                        {
                            "id": "rs1258657913",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1258657913"
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                    ]
                }
            ],
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                            "database": "PubMed",
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                            "url": "https://glygen.org/publication/PubMed/29741879"
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                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/280"
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                    ],
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                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P01266"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:10534",
                            "name": "stomach cancer",
                            "description": "A gastrointestinal system cancer that is located_in the stomach.",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "evidence": [
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                },
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:5041",
                            "name": "esophageal cancer",
                            "description": "A gastrointestinal system cancer that is located_in the esophagus.",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "evidence": [
                                {
                                    "id": "5041",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:5041"
                                }
                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->SVT).",
                    "chr_id": "8",
                    "chr_pos": "132911468",
                    "evidence": [
                        {
                            "id": "rs1819515531",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1819515531"
                        },
                        {
                            "id": "rs1819515531",
                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs1819515531"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "Y",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->YVT).",
                    "chr_id": "8",
                    "chr_pos": "132911467",
                    "evidence": [
                        {
                            "id": "rs142264604",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142264604"
                        },
                        {
                            "id": "rs142264604",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142264604"
                        },
                        {
                            "id": "rs142264604",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs142264604#frequency_tab"
                        },
                        {
                            "id": "rs142264604",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs142264604"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:0112187",
                            "name": "thyroid dyshormonogenesis 3",
                            "description": "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22.",
                            "url": "http://disease-ontology.org/term/DOID:0112187",
                            "evidence": [
                                {
                                    "id": "274700",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/274700"
                                },
                                {
                                    "id": "0112187",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0112187"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0112187",
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                            "description": "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22.",
                            "url": "http://disease-ontology.org/term/DOID:0112187",
                            "evidence": [
                                {
                                    "id": "274700",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/274700"
                                },
                                {
                                    "id": "0112187",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0112187"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0112187",
                            "name": "thyroid dyshormonogenesis 3",
                            "description": "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22.",
                            "url": "http://disease-ontology.org/term/DOID:0112187",
                            "evidence": [
                                {
                                    "id": "274700",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/274700"
                                },
                                {
                                    "id": "0112187",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0112187"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0112187",
                            "name": "thyroid dyshormonogenesis 3",
                            "description": "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22.",
                            "url": "http://disease-ontology.org/term/DOID:0112187",
                            "evidence": [
                                {
                                    "id": "274700",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/274700"
                                },
                                {
                                    "id": "0112187",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0112187"
                                }
                            ]
                        }
                    ]
                }
            ],
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                {
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                    "start_pos": 1365,
                    "end_pos": 1365,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "600",
                            "url": "https://glyconnect.expasy.org/browser/proteins/600"
                        }
                    ],
                    "protein_name": "Thyroglobulin",
                    "gene_name": "TG",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 2768,
                    "chemical_mass": 304790.0
                }
            ]
        },
        {
            "start_pos": "169",
            "site_seq": "N",
            "site_lbl": "Asn169",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P04004-1",
                    "start_pos": 169,
                    "end_pos": 169,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "625",
                            "url": "https://glyconnect.expasy.org/browser/proteins/625"
                        }
                    ],
                    "protein_name": "Vitronectin",
                    "gene_name": "VTN",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 478,
                    "chemical_mass": 54306.0
                }
            ]
        },
        {
            "start_pos": "169",
            "site_seq": "nGSLFAFR",
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            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P04004-1",
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                    "end_pos": 169,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "625",
                            "url": "https://glyconnect.expasy.org/browser/proteins/625"
                        }
                    ],
                    "protein_name": "Vitronectin",
                    "gene_name": "VTN",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 478,
                    "chemical_mass": 54306.0
                }
            ]
        },
        {
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P04004-1",
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                    "end_pos": 169,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "625",
                            "url": "https://glyconnect.expasy.org/browser/proteins/625"
                        }
                    ],
                    "protein_name": "Vitronectin",
                    "gene_name": "VTN",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 478,
                    "chemical_mass": 54306.0
                }
            ]
        },
        {
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            "site_lbl": "Asn131",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P01877-2",
                    "start_pos": 131,
                    "end_pos": 131,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "647",
                            "url": "https://glyconnect.expasy.org/browser/proteins/647"
                        }
                    ],
                    "protein_name": "Immunoglobulin heavy constant alpha 2",
                    "gene_name": "IGHA2",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 42334.0
                }
            ]
        },
        {
            "start_pos": "131",
            "site_seq": "VPPPPPCCHPRLSLHRPALEDLLLGSEANLTCTLTGLR",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P01877-2",
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                    "end_pos": 131,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "647",
                            "url": "https://glyconnect.expasy.org/browser/proteins/647"
                        }
                    ],
                    "protein_name": "Immunoglobulin heavy constant alpha 2",
                    "gene_name": "IGHA2",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 391,
                    "chemical_mass": 42334.0
                }
            ]
        },
        {
            "start_pos": "205",
            "site_seq": "N",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P01877-2",
                    "start_pos": 205,
                    "end_pos": 205,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "647",
                            "url": "https://glyconnect.expasy.org/browser/proteins/647"
                        }
                    ],
                    "protein_name": "Immunoglobulin heavy constant alpha 2",
                    "gene_name": "IGHA2",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 42334.0
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            ]
        },
        {
            "start_pos": "205",
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            "residue": "N",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P01877-2",
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                    "end_pos": 205,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "647",
                            "url": "https://glyconnect.expasy.org/browser/proteins/647"
                        }
                    ],
                    "protein_name": "Immunoglobulin heavy constant alpha 2",
                    "gene_name": "IGHA2",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 42334.0
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            ]
        },
        {
            "start_pos": "131",
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            "site_lbl": "N131",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->KLT).",
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                    "chr_pos": "105587789",
                    "evidence": [
                        {
                            "id": "rs2085474772",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2085474772"
                        },
                        {
                            "id": "rs2085474772",
                            "database": "TOPMed",
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                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P01877-2",
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                    "evidence": [
                        {
                            "database": "PubMed",
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                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "647",
                            "url": "https://glyconnect.expasy.org/browser/proteins/647"
                        }
                    ],
                    "protein_name": "Immunoglobulin heavy constant alpha 2",
                    "gene_name": "IGHA2",
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                    "tax_name": "Homo sapiens",
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                    "chemical_mass": 42334.0
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            ]
        },
        {
            "start_pos": "205",
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            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->KIT).",
                    "chr_id": "14",
                    "chr_pos": "105587567",
                    "evidence": [
                        {
                            "id": "rs2085466217",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2085466217"
                        },
                        {
                            "id": "rs2085466217",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs2085466217#frequency_tab"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "T",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->TIT).",
                    "chr_id": "14",
                    "chr_pos": "105587568",
                    "evidence": [
                        {
                            "id": "rs558289293",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs558289293"
                        },
                        {
                            "id": "rs558289293",
                            "database": "1000Genomes",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs558289293"
                        },
                        {
                            "id": "rs558289293",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs558289293"
                        },
                        {
                            "id": "rs558289293",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs558289293"
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                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P01877-2",
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                    "end_pos": 205,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "647",
                            "url": "https://glyconnect.expasy.org/browser/proteins/647"
                        }
                    ],
                    "protein_name": "Immunoglobulin heavy constant alpha 2",
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            ]
        },
        {
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            "site_seq": "AENQVnVTCQVR",
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            "glycoprotein": [
                {
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                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
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                            "url": "https://glyconnect.expasy.org/browser/proteins/650"
                        }
                    ],
                    "protein_name": "Tyrosine-protein phosphatase non-receptor type substrate 1",
                    "gene_name": "SIRPA",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 54967.0
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            ]
        },
        {
            "start_pos": "270",
            "site_seq": "VPPTLEVTQQPVRAENQVnVTCQVR",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P78324-1",
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                        {
                            "database": "PubMed",
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                        },
                        {
                            "database": "GlyConnect",
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                            "url": "https://glyconnect.expasy.org/browser/proteins/650"
                        }
                    ],
                    "protein_name": "Tyrosine-protein phosphatase non-receptor type substrate 1",
                    "gene_name": "SIRPA",
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                    "chemical_mass": 54967.0
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            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "P78324-1",
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                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "650",
                            "url": "https://glyconnect.expasy.org/browser/proteins/650"
                        }
                    ],
                    "protein_name": "Tyrosine-protein phosphatase non-receptor type substrate 1",
                    "gene_name": "SIRPA",
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                    "chemical_mass": 54967.0
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            ]
        },
        {
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            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->SVT).",
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                    "chr_pos": "1922367",
                    "evidence": [
                        {
                            "id": "rs1417859969",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1417859969"
                        },
                        {
                            "id": "rs1417859969",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1417859969"
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                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P78324-1",
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                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "650",
                            "url": "https://glyconnect.expasy.org/browser/proteins/650"
                        }
                    ],
                    "protein_name": "Tyrosine-protein phosphatase non-receptor type substrate 1",
                    "gene_name": "SIRPA",
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            ]
        },
        {
            "start_pos": "226",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P0C0L4-1",
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                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "651",
                            "url": "https://glyconnect.expasy.org/browser/proteins/651"
                        },
                        {
                            "database": "PubMed",
                            "id": "29671580",
                            "url": "https://glygen.org/publication/PubMed/29671580"
                        }
                    ],
                    "protein_name": "Complement C4-A",
                    "gene_name": "C4A",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 1744,
                    "chemical_mass": 192785.0
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            ]
        },
        {
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                {
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                        {
                            "database": "GlyConnect",
                            "id": "659",
                            "url": "https://glyconnect.expasy.org/browser/proteins/659"
                        }
                    ],
                    "protein_name": "HLA class II histocompatibility antigen gamma chain",
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            ]
        },
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                        {
                            "database": "GlyConnect",
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                            "url": "https://glyconnect.expasy.org/browser/proteins/659"
                        }
                    ],
                    "protein_name": "HLA class II histocompatibility antigen gamma chain",
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            ]
        },
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                        {
                            "id": "rs1234104385",
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                        {
                            "id": "rs1234104385",
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                    ]
                }
            ],
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                        {
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                    ],
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            ]
        },
        {
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                        {
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                    ],
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            ]
        },
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                            "url": "https://glygen.org/publication/PubMed/29741879"
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                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/670"
                        }
                    ],
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            ]
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                        {
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                    ],
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                    "tax_name": "Homo sapiens",
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            ]
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                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/670"
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                    ],
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            ]
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        {
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                        {
                            "id": "Q6EMK4",
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                        {
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                        },
                        {
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                    ],
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                        }
                    ]
                },
                {
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                    ],
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                                {
                                    "id": "9256",
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                            ]
                        }
                    ]
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                    ],
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            ]
        },
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                        },
                        {
                            "database": "GlyConnect",
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                    ],
                    "protein_name": "Immunoglobulin heavy constant gamma 1",
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            ]
        },
        {
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                    ],
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            ]
        },
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                        {
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                    ],
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                                {
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                    ]
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                    ],
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                            "url": "https://glyconnect.expasy.org/browser/proteins/677"
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                    ],
                    "protein_name": "Apolipoprotein D",
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            ]
        },
        {
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                    ],
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            ]
        },
        {
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                    ],
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            ]
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            ]
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                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/692"
                        },
                        {
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                    ],
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            ]
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        {
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                        {
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                    ],
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                    ],
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        },
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                    ],
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            ]
        },
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                    ],
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            ]
        },
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                    ],
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            ]
        },
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                        {
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                    ]
                }
            ],
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                    ],
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            ]
        },
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                    ],
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            ]
        },
        {
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                    ],
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            ]
        },
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                        {
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                        }
                    ],
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            ]
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                        {
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                    ],
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            ]
        },
        {
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                        {
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                        {
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                    ]
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                    ],
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                        {
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                    ],
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                    ],
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                    ],
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                    ],
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                    ],
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                    ]
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                    ],
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                        {
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                        {
                            "id": "rs2093428153",
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                            "id": "rs2093427902",
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                    ],
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            ]
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                    ],
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                    ]
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                        {
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                        {
                            "id": "rs371154344",
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                        {
                            "id": "rs371154344",
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                        {
                            "id": "rs1381116986",
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                            "id": "rs1157896386",
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                            "id": "rs1157896386",
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                        {
                            "id": "rs200736150",
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                        {
                            "id": "rs747445335",
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                        {
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                        {
                            "id": "rs747445335",
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                        {
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                    ],
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                    ],
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                    ],
                    "protein_name": "Low affinity immunoglobulin gamma Fc region receptor III-A",
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                    "tax_name": "Homo sapiens",
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            ]
        },
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                    ],
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        },
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                    "chemical_mass": 54044.0
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            ]
        },
        {
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                    ],
                    "protein_name": "Lysosome membrane protein 2",
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                {
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                    ]
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                {
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                    ],
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            ]
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                {
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                    ],
                    "protein_name": "Major prion protein",
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                    "chemical_mass": 27977.0
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            ]
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        {
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                    ],
                    "protein_name": "Major prion protein",
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        {
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                {
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                    ],
                    "protein_name": "MAM domain-containing glycosylphosphatidylinositol anchor protein 1",
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            ]
        },
        {
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                    ],
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        {
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                    ],
                    "protein_name": "Transport and Golgi organization protein 1 homolog",
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            ]
        },
        {
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                    ],
                    "protein_name": "Transport and Golgi organization protein 1 homolog",
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            ]
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        {
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                    ],
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            ]
        },
        {
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                    ],
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            ]
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        {
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                    ],
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            ]
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        {
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                    ],
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            ]
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        {
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                    ],
                    "protein_name": "Metal transporter CNNM4",
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            ]
        },
        {
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                    ],
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            ]
        },
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                    ],
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            ]
        },
        {
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            ]
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        {
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                    ]
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                    ],
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                    ],
                    "protein_name": "Multiple inositol polyphosphate phosphatase 1",
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        {
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                    ],
                    "protein_name": "Myelin-associated glycoprotein",
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            ]
        },
        {
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                    ],
                    "protein_name": "Myelin-associated glycoprotein",
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            ]
        },
        {
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                {
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                    ],
                    "protein_name": "N-acetylglucosamine-6-sulfatase",
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            ]
        },
        {
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                    "uniprot_canonical_ac": "Q8BFR4-1",
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                    ],
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                    "length": 306,
                    "chemical_mass": 34490.0
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                    ],
                    "protein_name": "Peptidyl-prolyl cis-trans isomerase FKBP9",
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            ]
        },
        {
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                    ],
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                    ],
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            ]
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        {
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        {
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            ]
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        {
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                    ],
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            ]
        },
        {
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                    ],
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            ]
        },
        {
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            ]
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                    "protein_name": "Prosaposin",
                    "gene_name": "Psap",
                    "tax_id": 10090,
                    "tax_name": "Mus musculus",
                    "tax_common_name": "Mouse",
                    "length": 557,
                    "chemical_mass": 61422.0
                }
            ]
        },
        {
            "start_pos": "80",
            "site_seq": "N",
            "site_lbl": "Asn80",
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                {
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                        },
                        {
                            "database": "GlyConnect",
                            "id": "2615",
                            "url": "https://glyconnect.expasy.org/browser/proteins/2615"
                        }
                    ],
                    "protein_name": "Prosaposin",
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                    "tax_name": "Mus musculus",
                    "tax_common_name": "Mouse",
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                    "chemical_mass": 61422.0
                }
            ]
        },
        {
            "start_pos": "80",
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                {
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                        },
                        {
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                            "id": "2615",
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                        }
                    ],
                    "protein_name": "Prosaposin",
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                    "chemical_mass": 61422.0
                }
            ]
        },
        {
            "start_pos": "51",
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            "site_lbl": "Asn51",
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                {
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                        },
                        {
                            "database": "GlyConnect",
                            "id": "2617",
                            "url": "https://glyconnect.expasy.org/browser/proteins/2617"
                        }
                    ],
                    "protein_name": "Prostaglandin-H2 D-isomerase",
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                    "tax_name": "Mus musculus",
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                    "length": 189,
                    "chemical_mass": 21066.0
                }
            ]
        },
        {
            "start_pos": "51",
            "site_seq": "WYSAGLASNSSWFR",
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                {
                    "uniprot_canonical_ac": "O09114-1",
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                        },
                        {
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                            "id": "2617",
                            "url": "https://glyconnect.expasy.org/browser/proteins/2617"
                        }
                    ],
                    "protein_name": "Prostaglandin-H2 D-isomerase",
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                    "tax_name": "Mus musculus",
                    "tax_common_name": "Mouse",
                    "length": 189,
                    "chemical_mass": 21066.0
                }
            ]
        },
        {
            "start_pos": "261",
            "site_seq": "N",
            "site_lbl": "Asn261",
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                {
                    "uniprot_canonical_ac": "Q8BXZ1-1",
                    "start_pos": 261,
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                        {
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                            "id": "30899004",
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                        },
                        {
                            "database": "GlyConnect",
                            "id": "2623",
                            "url": "https://glyconnect.expasy.org/browser/proteins/2623"
                        }
                    ],
                    "protein_name": "Protein disulfide-isomerase TMX3",
                    "gene_name": "Tmx3",
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                    "tax_name": "Mus musculus",
                    "tax_common_name": "Mouse",
                    "length": 456,
                    "chemical_mass": 51848.0
                }
            ]
        },
        {
            "start_pos": "261",
            "site_seq": "NTSLEHTR",
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                {
                    "uniprot_canonical_ac": "Q8BXZ1-1",
                    "start_pos": 261,
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                        {
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                        {
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                            "id": "2623",
                            "url": "https://glyconnect.expasy.org/browser/proteins/2623"
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                    ],
                    "protein_name": "Protein disulfide-isomerase TMX3",
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                    "tax_name": "Mus musculus",
                    "tax_common_name": "Mouse",
                    "length": 456,
                    "chemical_mass": 51848.0
                }
            ]
        },
        {
            "start_pos": "55",
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            "site_lbl": "Asn55",
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                {
                    "uniprot_canonical_ac": "P20934-1",
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                        {
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                        },
                        {
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                            "id": "2626",
                            "url": "https://glyconnect.expasy.org/browser/proteins/2626"
                        }
                    ],
                    "protein_name": "Protein EVI2A",
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                    "tax_name": "Mus musculus",
                    "tax_common_name": "Mouse",
                    "length": 223,
                    "chemical_mass": 24087.0
                }
            ]
        },
        {
            "start_pos": "55",
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                {
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                            "id": "2626",
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                    ],
                    "protein_name": "Protein EVI2A",
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                    "chemical_mass": 24087.0
                }
            ]
        },
        {
            "start_pos": "265",
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                {
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                            "id": "2627",
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                    ],
                    "protein_name": "Protein FAM171A2",
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                    "tax_name": "Mus musculus",
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                    "chemical_mass": 87487.0
                }
            ]
        },
        {
            "start_pos": "265",
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                    ],
                    "protein_name": "Protein FAM171A2",
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                    "chemical_mass": 87487.0
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            ]
        },
        {
            "start_pos": "265",
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                {
                    "weight": 100,
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                            "id": "rs3389206454",
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                    ]
                }
            ],
            "glycoprotein": [
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                            "id": "2627",
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                    ],
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                    "chemical_mass": 87487.0
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            ]
        },
        {
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                {
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                        {
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                        {
                            "database": "GlyConnect",
                            "id": "2630",
                            "url": "https://glyconnect.expasy.org/browser/proteins/2630"
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                    ],
                    "protein_name": "Protein FAM234B",
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                    "tax_name": "Mus musculus",
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                    "length": 624,
                    "chemical_mass": 67031.0
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            ]
        },
        {
            "start_pos": "239",
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                {
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                            "id": "2630",
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                    ],
                    "protein_name": "Protein FAM234B",
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                    "tax_common_name": "Mouse",
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                    "chemical_mass": 67031.0
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            ]
        },
        {
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                {
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                            "id": "2634",
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                    ],
                    "protein_name": "Protein kinase C-binding protein NELL2",
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                    "chemical_mass": 91432.0
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            ]
        },
        {
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                    ],
                    "protein_name": "Protein kinase C-binding protein NELL2",
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                    "chemical_mass": 91432.0
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            ]
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        {
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                {
                    "uniprot_canonical_ac": "Q64299-1",
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                    ],
                    "protein_name": "CCN family member 3",
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                    "chemical_mass": 38928.0
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            ]
        },
        {
            "start_pos": "277",
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                    ],
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                    "chemical_mass": 38928.0
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            ]
        },
        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/2636"
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                    ],
                    "protein_name": "Protein O-glucosyltransferase 1",
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                    "chemical_mass": 46379.0
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            ]
        },
        {
            "start_pos": "204",
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                        {
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                    ],
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                    "chemical_mass": 46379.0
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            ]
        },
        {
            "start_pos": "471",
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                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/2639"
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                    ],
                    "protein_name": "Protein O-mannosyl-transferase 1",
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                    "chemical_mass": 85234.0
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            ]
        },
        {
            "start_pos": "471",
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                {
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                    ],
                    "protein_name": "Protein O-mannosyl-transferase 1",
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                    "chemical_mass": 85234.0
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            ]
        },
        {
            "start_pos": "177",
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                        {
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                    ],
                    "protein_name": "Protein OS-9",
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                    "tax_name": "Mus musculus",
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                    "chemical_mass": 76108.0
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            ]
        },
        {
            "start_pos": "177",
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                    ],
                    "protein_name": "Protein OS-9",
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                    "chemical_mass": 76108.0
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            ]
        },
        {
            "start_pos": "427",
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            ]
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                    ],
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        {
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                    ],
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            ]
        },
        {
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        {
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            ]
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                        {
                            "database": "GlyConnect",
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                    "chemical_mass": 44954.0
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            ]
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        {
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                            "id": "2192",
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                    ],
                    "protein_name": "Procathepsin L",
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            ]
        },
        {
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                {
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                    ],
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            ]
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        {
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                    ],
                    "protein_name": "Cation-dependent mannose-6-phosphate receptor",
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                    "chemical_mass": 31172.0
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            ]
        },
        {
            "start_pos": "58",
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                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/2194"
                        }
                    ],
                    "protein_name": "Cation-dependent mannose-6-phosphate receptor",
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        {
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                    ],
                    "protein_name": "Cation-independent mannose-6-phosphate receptor",
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            ]
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        {
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                    ],
                    "protein_name": "Cation-independent mannose-6-phosphate receptor",
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            ]
        },
        {
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                {
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        {
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                    ],
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            ]
        },
        {
            "start_pos": "480",
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                    ],
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        {
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                    ],
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        {
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        {
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                    ],
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            ]
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        {
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        {
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        {
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                    ],
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        },
        {
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                    ],
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        {
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                    ],
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            ]
        },
        {
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                    ],
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            ]
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        {
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                    ],
                    "protein_name": "Putative lipid scramblase CLPTM1",
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            ]
        },
        {
            "start_pos": "295",
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                {
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}
